A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12619
Abstract: Late-infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively. TPP1 is well-understood… read more here.
Keywords: cln3; ceroid lipofuscinosis; tpp1; cln3 tpp1 ... See more keywords
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3)
Sign Up to like & getrecommendations! Published in 2018 at "Documenta Ophthalmologica"
DOI: 10.1007/s10633-018-9665-7
Abstract: PurposeMutation of the CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, has recently been associated with late-onset, non-syndromic retinal dystrophy. Herein we describe the multimodal imaging, immunological and systemic features of an adult with compound… read more here.
Keywords: non syndromic; syndromic retinal; cln3; retinal dystrophy ... See more keywords
Loss of Cln3 impacts protein secretion in the social amoeba Dictyostelium.
Sign Up to like & getrecommendations! Published in 2017 at "Cellular signalling"
DOI: 10.1016/j.cellsig.2017.03.022
Abstract: Neuronal ceroid lipofuscinosis (NCL), also referred to as Batten disease, is the most common form of childhood neurodegeneration. Mutations in CLN3 cause the most prevalent subtype of the disease, which manifests during early childhood and… read more here.
Keywords: secretion; loss cln3; protein secretion; cln3 ... See more keywords
An improved, novel, systemically administered AAV gene therapy for treatment of CLN3 juvenile neuronal ceroid lipofuscinosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.202
Abstract: Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessively inherited mutation in the CLN3 gene. JNCL is a progressive neurodegenerative disorder in which the central nervous system (CNS) is… read more here.
Keywords: neuronal ceroid; juvenile neuronal; ceroid lipofuscinosis; biodistribution ... See more keywords
Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-51488-z
Abstract: CLN3 mutations cause the fatal neurodegenerative disorder, CLN3 Batten disease. The Cln3 −/− mouse model displays characteristic features of the human disease including motor deficits. When mice received acidified drinking water (pH 2.5–2.9) instead of… read more here.
Keywords: water; disease; gut microbiota; cln3 ... See more keywords
Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease
Sign Up to like & getrecommendations! Published in 2017 at "Bioscience Reports"
DOI: 10.1042/bsr20171229
Abstract: Juvenile CLN3 (Batten) disease, a fatal, childhood neurodegenerative disorder, results from mutations in the CLN3 gene encoding a lysosomal/endosomal transmembrane protein. The exact physiological function of CLN3 is still unknown and it is unclear how… read more here.
Keywords: protein; cln3; transmembrane protein; lack specificity ... See more keywords
Searching for novel biomarkers using a mouse model of CLN3-Batten disease
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0201470
Abstract: CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease-associated deletion. Identification of… read more here.
Keywords: cln3 batten; disease; batten disease; cln3 ... See more keywords